| Zellweger syndrome Classification and external resources |
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| ICD-10 | Q87.8 |
|---|---|
| ICD-9 | 277.86, 759.8 |
| OMIM | 214100 |
| DiseasesDB | 14248 |
| MeSH | D015211 |
Zellweger syndrome, also called cerebrohepatorenal syndrome is a rare, congenital disorder (present at birth), characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The International Statistical Classification of Diseases and Related Health Problems 10th Revision ( ICD -10) is a coding of diseases and signs symptoms abnormal findings Q00-Q89 - Congenital malformations and deformations (Q00-Q07 Nervous system ( Anencephaly and similar malformations The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. The Mendelian Inheritance in Man project is a Database that catalogues all the known Diseases with a genetic component, and—when possible—links them The Diseases Database is a free Website that provides information about the relationships between medical conditions Symptoms, and Medications. Medical Subject Headings ( MeSH) is a huge Controlled vocabulary (or metadata system for the purpose of indexing journal articles and books Zellweger syndrome, also called Cerebrohepatorenal syndrome is a rare Congenital disorder (present at birth characterized by the reduction or absence of Peroxisomes A congenital disorder is a disease or disorder that is present at birth Peroxisomes are Ubiquitous Organelles in Eukaryotes that participate in the metabolism of Fatty acids and other metabolites The liver is a vital organ in the human body and is present in Vertebrates and some other animals The kidneys are complicated organs that have numerous biological roles The brain is the center of the Nervous system in animals All Vertebrates and the majority of Invertebrates have a brain
Contents |
Causes
It is characterized by an individual's inability to beta-oxidize very-long chain fatty acids in the peroxisomes of the cell, due to a genetic disorder in one of the several genes involved with peroxisome biogenesis. Beta oxidation is the process by which Fatty acids in the form of Acyl-CoA molecules are broken down in Mitochondria and/or in Peroxisomes to In Chemistry, especially Biochemistry, a fatty acid is a Carboxylic acid often with a long unbranched Aliphatic tail ( chain) which Peroxisomes are Ubiquitous Organelles in Eukaryotes that participate in the metabolism of Fatty acids and other metabolites A genetic disorder is a condition caused by abnormalities in Genes or Chromosomes While some diseases such as Cancer, are due to genetic abnormalities acquired Peroxisomes are Ubiquitous Organelles in Eukaryotes that participate in the metabolism of Fatty acids and other metabolites Biogenesis is the process of Lifeforms producing other lifeforms e
Several peroxins are associated with Zellweger syndrome, including PEX1, PEX2, PEX3, PEX5, PEX6, PEX12, PEX14, and PEX26. Peroxin (or peroxisomal/peroxisome biogenesis factor) is a protein found in Peroxisomes Deficiencies are associated with several Peroxisomal disorders Peroxisome biogenesis factor 1, also known as PEX1, is a human Gene. Peroxisomal membrane protein 3, also known as PXMP3, is a human Gene. Peroxisomal biogenesis factor 3, also known as PEX3, is a human Gene. Peroxisomal biogenesis factor 5, also known as PEX5, is a human Gene. Peroxisomal biogenesis factor 6, also known as PEX6, is a human Gene. Peroxisomal biogenesis factor 12, also known as PEX12, is a human Gene. Peroxisomal biogenesis factor 14, also known as PEX14, is a human Gene. Peroxisome biogenesis factor 26, also known as PEX26, is a human Gene. [1]
Family
The disorder is one of three peroxisome biogenesis disorders which are also known as the Zellweger spectrum. Peroxisomal disorders are a class of conditions which lead to disorders of Lipid metabolism. The other two diseases are neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD)[2][3]
Very long chain fatty acids are generally found in the central nervous system (brain and spinal cord) and the peroxisomes of these cells can not import the necessary degradative proteins for B-oxidation to occur. Adrenoleukodystrophy (ALD (also known as Addison-Schilder Disease or Siemerling-Creutzfeldt Disease) is a rare (1 in 20000 boys inherited disorder that leads to Refsum's disease (Refsum-Thiébaut disease Refsum-Thiébaut-Klenk-Kahlke disease named after Norwegian neurologist Sigvald Bernhard Refsum (1907-1991 is neurological disease that results In Vertebrates the central nervous system ( CNS) is the part of the Nervous system which is enclosed in the Meninges. The brain is the center of the Nervous system in animals All Vertebrates and the majority of Invertebrates have a brain The spinal cord is a long thin tubular bundle of Nerves that is an extension of the Central nervous system from the brain and is enclosed in and protected Peroxisomes are Ubiquitous Organelles in Eukaryotes that participate in the metabolism of Fatty acids and other metabolites Beta oxidation is the process by which Fatty acids in the form of Acyl-CoA molecules are broken down in Mitochondria and/or in Peroxisomes to
Zellweger syndrome is one of a group of genetic disorders called peroxisomal diseases that affect brain development and the growth of the myelin sheath, the fatty covering—which acts as an insulator—on nerve fibers in the brain. A genetic disorder is a condition caused by abnormalities in Genes or Chromosomes While some diseases such as Cancer, are due to genetic abnormalities acquired Peroxisomal disorders are a class of conditions which lead to disorders of Lipid metabolism. The study of neural development draws on both Neuroscience and Developmental biology to describe the cellular and molecular mechanisms by which complex Nervous Myelin is an electrically-insulating Dielectric Phospholipid layer that surrounds only the Axons of many Neurons It is an outgrowth
Eponym
Named after Hans Zellweger, a former professor of Pediatrics and Genetics at the University of Iowa who did research into the disease. Pediatrics (also spelled paediatrics) is the branch of Medicine that deals with the medical care of Infants Children and Adolescents Genetics (from Ancient Greek grc-Latn genetikos, “genitive” and that from grc-Latn genesis, “origin” a discipline of Biology, is The University of Iowa, is a major teaching service and Research university located on a campus in Iowa City Iowa, on the banks of the Iowa River A disease is an abnormal condition of an organism that impairs bodily functions and can be deadly [4]
Presentation
The most common features of Zellweger syndrome include an enlarged liver, high levels of iron and copper in the blood stream, and vision disturbances. Hepatomegaly is the condition of having an enlarged Liver. It is a nonspecific medical sign having many causes which can broadly be broken down into Infection Some affected infants may show prenatal growth failure. Symptoms at birth may include a lack of muscle tone, an inability to move and glaucoma. In Physiology, Medicine, and Anatomy, muscle tone (aka residual muscle tension or tonus) is the continuous and passive partial Glaucoma is a group of diseases of the Optic nerve involving loss of retinal ganglion cells in a characteristic pattern of optic neuropathy. Other symptoms may include unusual facial characteristics, mental retardation, seizures, and an inability to suck and/or swallow. Mental retardation is a generalized triarchic disorder characterized by subaverage cognitive functioning and deficits in two or more adaptive behaviors with onset before the age Jaundice and gastrointestinal bleeding may also occur. Jaundice, also known as icterus (attributive adjective "icteric" is yellowish discoloration of the Skin, sclerae (whites of the eyes Gastrointestinal bleeding or gastrointestinal hemorrhage describes every form of Hemorrhage (loss of Blood) in the Gastrointestinal tract
Prognosis
There is no cure for Zellweger syndrome, nor is there a standard course of treatment. Infections should be guarded against to prevent such complications as pneumonia and respiratory distress. Pneumonia is an inflammatory illness of the Lung. Frequently it is described as lung Parenchyma / alveolar inflammation and abnormal Other treatment is symptomatic and supportive. The prognosis for individuals with Zellweger syndrome is poor. Prognosis (older Greek πρόγνωσις modern Greek πρόγνωση - literally fore-knowing foreseeing) is a medical term denoting the Death usually occurs by 6 months of age, and may be caused by respiratory distress, gastrointestinal bleeding, or liver failure. Liver failure is the inability of the Liver to perform its normal synthetic and metabolic function as part of normal physiology
References
- ^ OMIM - ZELLWEGER SYNDROME; ZS. Retrieved on 2007-07-11. Year 2007 ( MMVII) was a Common year starting on Monday of the Gregorian calendar in the 21st century. Events 911 - Signing of the Treaty of Saint-Clair-sur-Epte between Charles the Simple and Rollo of Normandy.
- ^ GeneReviews: Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
- ^ Krause C, Rosewich H, Thanos M, Gärtner J (2006). "Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients". Hum. Mutat. 27 (11): 1157. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 17041890.
- ^ synd/1670 at Who Named It
External links
Who Named It? is an English-language dictionary of medical eponyms and the People associated with their identification Medical College of Wisconsin is a Medical school located in Milwaukee, Wisconsin, United States.Dapyx Software network: MP3 Explorer | Ebook Manager | Zenithic